title: Poikiloderma with neutropenia: a case report and review of the literature.
abstract: Poikiloderma with neutropenia (PN, OMIM 604173) is a rare autosomal-recessive genodermatosis. Mutations in the C16orf57 gene have been recently identified as the cause. Here we describe a new case of PN in a white patient, review the literature, and point out the attention on importance of differential diagnosis.
authors.affiliation: *Department of Oncology, Pediatric Hematology and Oncology Unit, A.R.N.A.S. Ospedali Civico ‡Dermatology Unit, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo †Hematology Unit, G. Gaslini Children's Institute, Genoa, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Farruggia
authors.forename: Stefania
authors.initials: S
authors.lastname: Indaco
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
authors.forename: Tiziana
authors.initials: T
authors.lastname: Lanza
authors.forename: Clara
authors.initials: C
authors.lastname: Mosa
authors.forename: Alessandra
authors.initials: A
authors.lastname: Macaluso
authors.forename: Mirella
authors.initials: M
authors.lastname: Milioto
authors.forename: Paolo
authors.initials: P
authors.lastname: D'Angelo
authors.forename: Marina
authors.initials: M
authors.lastname: Lanciotti
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D009503:Neutropenia / Q000150:complications* / Q000175:diagnosis*; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000175:diagnosis*